ClinVar Miner

List of variants in gene FBLN5 reported as likely pathogenic for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526

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